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|Title:||A 20-year Clinical and Genetic Neuromuscular Cohort Analysis in Lebanon: An International Effort||Authors:||Megarbane, Andre
Al-Ali, Mahmoud Taleb
Talea, Diana Bou
El Hayek, Stephany
Urtizberea, J Andoni
|Affiliations:||Faculty of Medicine
Faculty of Medicine
|Issue Date:||2022||Part of:||Journal of Neuromuscular Diseases||Volume:||9||Issue:||1||Start page:||193||End page:||210||Abstract:||
Clinical and molecular data on the occurrence and frequency of inherited neuromuscular disorders (NMD) in the Lebanese population is scarce.
This study aims to provide a retrospective overview of hereditary NMDs based on our clinical consultations in Lebanon.
Clinical and molecular data of patients referred to a multi-disciplinary consultation for neuromuscular disorders over a 20-year period (1999–2019) was reviewed.
A total of 506 patients were diagnosed with 62 different disorders encompassing 10 classes of NMDs. 103 variants in 49 genes were identified. In this cohort, 81.4% of patients were diagnosed with motor neuron diseases and muscular dystrophies, with almost half of these described with spinal muscular atrophy (SMA) (40.3% of patients). We estimate a high SMA incidence of 1 in 7,500 births in Lebanon. Duchenne and Becker muscular dystrophy were the second most frequently diagnosed NMDs (17% of patients). These disorders were associated with the highest number of variants (39) identified in this study. A highly heterogeneous presentation of Limb Girdle Muscular Dystrophy and Charcot-Marie-Tooth disease was notably identified. The least common disorders (5.5% of patients) involved congenital, metabolic, and mitochondrial myopathies, congenital myasthenic syndromes, and myotonic dystrophies. A review of the literature for selected NMDs in Lebanon is provided.
Our study indicates a high prevalence and underreporting of heterogeneous forms of NMDs in Lebanon- a major challenge with many novel NMD treatments in the pipeline. This report calls for a regional NMD patient registry.
|URI:||https://scholarhub.balamand.edu.lb/handle/uob/5561||ISSN:||22143599||DOI:||10.3233/JND-210652||Open URL:||Link to full text||Type:||Journal Article|
|Appears in Collections:||Faculty of Medicine|
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